Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome

BMC Medical Genetics

Volumn 4, Issue , 2003, Pages

  Selvaraju, Veeriah ^a   Markandaya, Manjunath ^a   Prasad, Pullabatla Venkata Siva ^b   Sathyan, Parthasarathy ^c   Sethuraman, Gomathy ^d   Srivastava, Satish Chandra ^a   Thakker, Nalin ^e   Kumar, Arun ^a  

^a INDIAN INSTITUTE OF SCIENCE   (India)

^b ANNAMALAI UNIVERSITY   (India)

^c ARAVIND EYE HOSPITAL   (India)

^d ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DIPEPTIDE; DIPEPTIDYL PEPTIDASE I; GENOMIC DNA;

ADOLESCENT; ADULT; ALLELE; AMINO TERMINAL SEQUENCE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; DNA ISOLATION; ETHNIC GROUP; EXON; FAMILY STUDY; GENE AMPLIFICATION; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYBRIDIZATION; IMMUNITY; INDIAN; INFLAMMATION; INTRON; KERATOSIS PALMOPLANTARIS; MEDICAL LITERATURE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PERIODONTAL DISEASE; PERIODONTITIS; PHENOTYPE; POLYMERASE CHAIN REACTION; REVIEW; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

AGE OF ONSET; ALTERNATIVE SPLICING; CATHEPSIN C; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INDIA; MALE; PAPILLON-LEFEVRE DISEASE; PEDIGREE;

EID: 2542443696     PISSN: 14712350     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2350-4-5     Document Type: Review

References (22)

1. Papillon MN and Lefevre B: Two cases of familial symmetric palmoplanter keratosis (Maleda's disease) in a brother and his sister. Alterations in both cases (in French) Bull Soc Francaise Dermatologie Syphiligraphie 1924, 31:81-84.
2. Gorlin RJ, Sedano H and Anderson VF: The syndrome of palmoplantar hyperkeratosis and premature periodontal destruction of the teeth. A clinical and genetic analysis of the Papillon-Lefevre syndrome J Pediatr 1964, 65:895-908.
3. Cury VF, Costa JE, Gomez RS, Boson WL, Loures CG and Marco LD: A novel mutation of the cathepsin C gene in Papillon-Lefevre syndrome J Periodontol 2002, 73(3):307-312.
4. Fischer J, Blanchet-Bardon C, Prud'homme J-F, Pavek S, Steijlen PM, Dubertret L and Weissenbach J: Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region Eur J Hum Genet 1997, 51:156-160.
5. Laass MW, Hennies HC, Preis S, Stevens HP, Jung M, Leigh IM, Wienker TF and Reis A: Localization of a gene for Papillon-Lefevre syndrome to chromosome 11q14-q21 by homozygosity mapping Hum Genet 1997, 101:376-382.
6. Hart TC, Bowden DW, Ghaffar KA, Wang W, Cutler CW, Cebeci I, Efeoglu A and Firatli E: Sublocalization of the Papillon-Lefevre syndrome on chromosome 11q14-q21 Am J Med Genet 1998, 79:134-139.
7. Toomes C, James J, Wood AJ, CL Wu, McCormick D, Lench N, Hewitt C, Moynihan L, Roberts E, Woods CG, Markham A, Wong M, Widmer R, Ghaffar KA, Pemberton M, Hussein IR, Temtamy SA, Davies R, Read AP, Sloan P, Dixon MJ and Thakker NS: Loss-of function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis Nat Genet 1999, 23:421-424.
8. Rao NV, Rao GV and Hoidal JR: Human dipeptidyl-peptidase I. Gene characterization, localization, and expression J Biol Chem 1997, 272:10260-10265.
9. Hart TC, Hart PS, Michalec MD, Zhang Y, Firatli E, Van Dyke TE, Stabholz A, Zlotogorski A, Shapira L and Soskolne WA: Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C J Med Genet 2000, 37:88-94.
10. Hart TC, Hart PS, Michalec MD, Zhang Y, Marazita ML, Cooper M, Yassin OM, Nusier M and Walker S: Localization of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation J Med Genet 2000, 37:95-101.
11. Haneke E: The Papillon-Lefevre syndrome: keratosis palmoplantaris with periodontopathy: Report of a case and review of the cases in the literature Hum Genet 1979, 51:1-35.
12. Kumar A, Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA and Gilbert JR: Mutation analysis of the TSC2 gene in an African-American family Hum Mol Genet 1995, 4(12):2295-2298.
13. Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzalez-Duarte R, Grinberg D and Chabas A: Gaucher disease in Spanish patients: analysis of eight mutations Hum Mutat 1995, 5:303-309.
14. Hart TC, Hart PS, Bowden DW, Michalec MD, Callison SA, Walker SJ, Zhang Y and Firatli E: Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome J Med Genet 1999, 36:881-887.
15. Hart PS, Zhang Y, Firatli E, Uygur C, Lotfazar M, Michalec MD, Marks JJ, Lu X, Coates BJ, Seow WK, Marshall R, Williams D, Reed JB, Wright JT and Hart TC: Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients J Med Genet 2000, 37:927-932.
16. Nakano A, Nomura K, Nakano H, Ono Y, LaForgia S, Pulkkinen L, Hashimoto I and Uitto J: Papillon-Lefevre syndrome: mutations and polymorphisms in the cathepsin C gene J Invest Dermatol 2001, 116(2):339-343.
17. Zhang Y, Lundgren T, Renvert S, Tatakis DN, Firatli E, Uygur C, Hart PS, Gorry MC, Marks JJ and Hart TC: Evidence of a founder effect for four cathepsin gene mutations in Papillon-Lefevre syndrome patients J Med Genet 2001, 38(2):96-101.
18. Allende LM, Garcia-Perez MA, Moreno A, Corell A, Carasol M, Martinez-Canut P and Arnaiz-Villena A: Cathepsin C gene: First compound heterozygous patient with Papillon-Lefevre syndrome and a novel symptomless mutation Hum Mutat 2001, 17(2):152-153.
19. Lefevre C, Blanchet-Bardn C, Jobard F, Bouadjar B, Stalder JF, Cure S, Hoffmann A, Prud'homme JF and Fischer J: Novel point mutations, deletions and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome J Invest Dermatol 2001, 117(6):1657-1661.
20. Zhang Y, Hart PS, Moretti AJ, Bouwsma OJ, Fisher EM, Dudlicek L, Pettenati MJ and Hart TC: Biochemical and mutational analyses of the cathepsin C gene (CTSC) in three North American families with Papillon-Lefevre syndrome Hum Mutat 2002, 20(1):75.
21. Hart PS, Pallos D, Zhang Y, Sanchez J, Kavamura I, Brunoni D and Hart TC: Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefevre syndrome Mol Genet Metab 2002, 76(2):145-147.
22. Nusier M, Zhang Y, Yassin O, Hart TC and Hart PS: Demonstration of altered splicing with the IVS3-1G> A mutation of the cathepsin C Mol Genet Metab 2002, 75(3):280-283.